Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001939675 | SCV002232586 | pathogenic | Neuronal ceroid lipofuscinosis 1 | 2021-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PPT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu10Serfs*23) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943, 21990111). |
Baylor Genetics | RCV001939675 | SCV004204154 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2023-04-24 | criteria provided, single submitter | clinical testing |